A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2259n54



Internal ID20135683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:757691..765362hg38UCSC Ensembl
chr12:866857..874528hg19UCSC Ensembl
chr12:737118..744789hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387672
hg197672
hg187672
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv556927, nsv556932, nsv556913, nsv556920, nsv556914, nsv556917, nsv556922, nsv556933, nsv556925, nsv556915, nsv556916, nsv556934, nsv556921, nsv556926, nsv556937, nsv556936
Samples
Known GenesWNK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2259n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss301
Observed Complex0
Frequencyn/a


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